ClinVar Miner

List of variants reported as likely pathogenic for Spinocerebellar ataxia type 29

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 18
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001378452.1(ITPR1):c.2843G>A (p.Gly948Glu) rs1443276640 0.00001
NM_001378452.1(ITPR1):c.107G>A (p.Arg36His) rs1057518026
NM_001378452.1(ITPR1):c.1510A>G (p.Arg504Gly) rs2093873520
NM_001378452.1(ITPR1):c.1534G>A (p.Glu512Lys) rs2125193560
NM_001378452.1(ITPR1):c.1813C>G (p.Leu605Val)
NM_001378452.1(ITPR1):c.4333G>A (p.Val1445Met) rs1559718601
NM_001378452.1(ITPR1):c.4691T>C (p.Leu1564Pro) rs2125272771
NM_001378452.1(ITPR1):c.5616G>A (p.Met1872Ile) rs1002376493
NM_001378452.1(ITPR1):c.722G>A (p.Arg241Lys) rs2125159664
NM_001378452.1(ITPR1):c.7301C>T (p.Thr2434Ile)
NM_001378452.1(ITPR1):c.742_744del (p.Glu248del) rs1559603328
NM_001378452.1(ITPR1):c.755C>T (p.Thr252Ile) rs2125159718
NM_001378452.1(ITPR1):c.7648G>A (p.Gly2550Arg) rs1553757628
NM_001378452.1(ITPR1):c.7660G>A (p.Gly2554Arg) rs752281590
NM_001378452.1(ITPR1):c.7784G>C (p.Gly2595Ala) rs869312685
NM_001378452.1(ITPR1):c.7798A>C (p.Thr2600Pro) rs2106494596
NM_001378452.1(ITPR1):c.823G>A (p.Ala275Thr)
NM_001378452.1(ITPR1):c.830G>T (p.Ser277Ile) rs863224882

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.